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ALSO KNOWN AS | |
E-Keelung | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in heterozygotes without alpha-thal | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb E or Hb A2 on starch gel at alkaline pH; excellent separation by IEF | |
CHROMATOGRAPHY | |
Hb X separates from Hb A in cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
A GAG->AAG mutation at codon 23 of the -alpha(3.7 kb) alpha-thal-2 gene has been reported in a family from Surinam (Ref. 3) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Not reported | |
OCCURRENCE | |
Reported in a few Black, Chinese, and Japanese families | |
OTHER INFORMATION | |
Quantity in heterozygotes 14.5-24%; those with the mutation on the -alpha(3.7 kb) alpha-thal-2 gene had ~31.5% Hb X | |
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REFERENCES |
1. | |
Boyer, S.H., Crosby, E.F., Fuller, G.F., Ulenurm, L., and Buck, A.A.: Am. J. Hum. Genet., 20:570, 1968. | |
2. | |
Blackwell, R.Q., Weng, M-I., and Huang, J-T.: Trop. Geogr. Med., 25:393, 1973. | |
3. | |
Codrington, J.F., Codrington, F.A., Wisse, J.H., Wilson, J.B., Webber, B.B., Wong, S.C., and Huisman, T.H.J.: Hemoglobin, 13:543, 1989. | |